Canonical Allele Identifier: CA503800940

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46088215A>G , CM000680.2:g.46088215A>G	GRCh38
NC_000018.9:g.43668181A>G , CM000680.1:g.43668181A>G	GRCh37
NC_000018.8:g.41922179A>G	NCBI36
NG_041769.1:g.21019T>C
NG_041769.2:g.26019T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.693T>C MANE Select	NP_004037.1:p.Arg231=
ENST00000398752.11:c.693T>C MANE Select	ENSP00000381736.5:p.Arg231=
NM_001001935.2:c.543T>C	NP_001001935.1:p.Arg181=
NM_001001935.3:c.543T>C	NP_001001935.1:p.Arg181=
NM_001001937.1:c.693T>C	NP_001001937.1:p.Arg231=
NM_001001937.2:c.693T>C	NP_001001937.1:p.Arg231=
NM_001257334.1:c.627T>C	NP_001244263.1:p.Arg209=
NM_001257334.2:c.627T>C	NP_001244263.1:p.Arg209=
NM_001257335.1:c.543T>C	NP_001244264.1:p.Arg181=
NM_001257335.2:c.543T>C	NP_001244264.1:p.Arg181=
NM_004046.5:c.693T>C	NP_004037.1:p.Arg231=
ENST00000282050.6:c.693T>C	ENSP00000282050.2:p.Arg231=
ENST00000398752.10:c.693T>C	ENSP00000381736.5:p.Arg231=
ENST00000586523.1:n.482T>C
ENST00000586592.5:c.*756T>C	ENSP00000466275.3:n.*756T>C
ENST00000589252.5:c.426T>C	ENSP00000466975.1:p.Arg142=
ENST00000589869.5:c.543T>C	ENSP00000465497.1:p.Arg181=
ENST00000590156.5:c.*589T>C	ENSP00000466309.1:n.*589T>C
ENST00000590665.5:c.627T>C	ENSP00000467037.1:p.Arg209=
ENST00000592364.5:c.227-1151T>C	ENSP00000468618.1:n.227-1151T>C
ENST00000593152.6:c.543T>C	ENSP00000465477.2:p.Arg181=
XM_011526018.1:c.543T>C	XP_011524320.1:p.Arg181=
XM_017025789.1:c.693T>C	XP_016881278.1:p.Arg231=